E472K (p.Glu472Lys) variant of KRT6B (Keratin, type II cytoskeletal 6B)
E472K (p.Glu472Lys) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pachyonychia congenita 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E472K (p.Glu472Lys) variant details
- p.Glu472Lys
- rs60627726
- ClinGen CA210845
- NCI-TCGA Cosmic COSV5288
- ClinVar RCV000015739
- Pathogenic
- Pachyonychia congenita 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Pachyonychia congenita 4; not provided)
- EBI: Pathogenic (in PC4)
- UniProt: Pathogenic (in PC4)
- Structural context available
- Cited in: The genetic basis of pachyonychia congenita. (PMID 16250206)
- Cited in: A large mutational study in pachyonychia congenita. (PMID 21326300)